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Editors: Hoyt, Nicole, Liza and Cory. Contact us at intheloop@mayo.edu.

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October 25, 2016

Genetic Testing Gets to the Heart of the Matter for Patient With Mysterious Symptoms

By In the Loop

Valentine's Day 2009 was a memorable one for Karen Daggett. But not because of a romantic dinner or thoughtful gift. Instead, that particular day stands out because it was nearly her last.

Karen and her husband were enjoying a Valentine's Day dinner with friends at a restaurant in Florida, when she "suddenly felt very ill," as KTTC-TV reports. "I was in full body tremors," Karen tells the station. Her husband rushed her to a nearby hospital, and by the time they arrived, Karen couldn't remember her birthdate. Had they waited much longer to get help, she might not have had another birthday to celebrate. "They told my husband, 'within 12 hours, you'd be taking her home in a box,'" Karen tells the station.

Karen was admitted to the hospital, where doctors stabilized her condition and tried to determine what was causing her symptoms. After five days and countless tests, doctors at the Naples, Florida, facility were stumped and told Karen she needed to be seen at Mayo Clinic. There, after two weeks of testing, "they finally solved the puzzle," Karen says. DNA testing through the Mayo Clinic Center for Individualized Medicine showed that Karen had a genetic defect, and her body wasn't properly processing some drugs. That was causing potentially fatal side effects when she took certain medications. It also meant that other medications, including one she needed to control her heart disease, weren't working at all.

Armed with an understanding of Karen's unique genetic profile, doctors were able to find a heart medication that would work for her. Today, she's feeling well and credits the individualized medicine with saving her life. She recently shared her story at Individualizing Medicine 2016: Advancing Care Through Genomics, a conference hosted by Mayo that brought together hundreds of researchers and care providers interested in learning how genomics can improve patient care.

Stories like Karen's show "the power of the human genome to personalize care, and it's really what we think is the future of medical care and medicine in the United States," Keith Stewart, M.B., Ch.B., tells KTTC. Dr. Stewart, the Carlson and Nelson Endowed Director of the Mayo Clinic Center for Individualized Medicine, told those attending the conference, "I personally think every single American should have their genome sequenced."

We're guessing Karen would agree. After receiving her diagnosis, she encouraged her family members to have DNA testing. Many of them took her advice, including all five of her siblings, who learned they share Karen's genetic defect. That knowledge has changed the treatment they're receiving for various conditions, including heart disease and breast cancer. "This type of individualized medicine has saved so many lives in my family," Karen says. "I'm alive today because of it, and I feel great."

You can learn more about Karen's experience (and hear from her siblings, too) in a short video on the Mayo Clinic Center for Individualized Medicine website. Click on the second video, "Finding Answers Through Pharmacogenomics." You can leave your comments below before using the handy social media tools to share this story with others.